[17][26] On the contrary, the second type of mechanism (denoted as "dynamic") involves dramatic conformational changes in the protein structure upon ligand binding and has been reported for the cytosolic domain of the Mg2+ transporter MgtE from Thermus thermophilus,[22] the unknown function protein MJ0100 from M. jannaschii [21][27] and the regulatory region of Clostridium perfringens pyrophosphatase.

[3] For example, mutations in the cystathionine beta synthase protein lead to an inherited disorder of the metabolism called homocystinuria (OMIM: 236200).

[29] Mutations in the gamma subunit of the AMPK enzyme have been shown to lead to familial hypertrophic cardiomyopathy with Wolff–Parkinson–White syndrome (OMIM: 600858).

Mutations in the CBS domains of the IMPDH enzyme lead to the eye condition retinitis pigmentosa (OMIM: 180105).

Humans have a number of voltage-gated chloride channel genes, and mutations in the CBS domains of several of these have been identified as the cause of genetic diseases.